Canonical Allele Identifier: CA801605

Gene: P3H1

Linked Data

• ClinVar Variation Id: 440020
• ClinVar RCV Id: RCV000506742 ; RCV001097679 ; RCV001099451 ; RCV003960196
• dbSNP Id: rs76628300
• ExAC: 1:43212930 G / C
• gnomAD v2: 1-43212930-G-C
• gnomAD v3: 1-42747259-G-C
• gnomAD v4: 1-42747259-G-C
• MyVariant Identifiers: chr1:g.43212930G>C (hg19) ; chr1:g.42747259G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42747259G>C , CM000663.2:g.42747259G>C	GRCh38
NC_000001.10:g.43212930G>C , CM000663.1:g.43212930G>C	GRCh37
NC_000001.9:g.42985517G>C	NCBI36
NG_008123.1:g.24826C>G , LRG_5:g.24826C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296388.10:c.2055+13C>G MANE Select	ENSP00000296388.5:n.2055+13C>G
ENST00000236040.8:c.2068C>G	ENSP00000236040.4:p.Arg690Gly
ENST00000296388.9:c.2055+13C>G	ENSP00000296388.5:n.2055+13C>G
ENST00000397054.7:c.2068C>G	ENSP00000380245.3:p.Arg690Gly
ENST00000460031.5:n.2247+13C>G
ENST00000462474.5:n.230C>G
ENST00000472802.1:n.318C>G
ENST00000495874.5:n.2335+13C>G
NM_001146289.1:c.2068C>G , LRG_5t2:c.2068C>G	NP_001139761.1:p.Arg690Gly
NM_001243246.1:c.2068C>G , LRG_5t3:c.2068C>G	NP_001230175.1:p.Arg690Gly
NM_022356.3:c.2055+13C>G , LRG_5t1:c.2055+13C>G	NP_071751.3:n.2055+13C>G
XM_005271110.2:c.1047+13C>G	XP_005271167.1:n.1047+13C>G
XM_011541947.1:c.1080+13C>G	XP_011540249.1:n.1080+13C>G
XM_011541948.1:c.1080+13C>G	XP_011540250.1:n.1080+13C>G
XM_011541949.1:c.1077+13C>G	XP_011540251.1:n.1077+13C>G
XM_017002051.2:c.1080+13C>G	XP_016857540.1:n.1080+13C>G
XM_017002052.2:c.1077+13C>G	XP_016857541.1:n.1077+13C>G
NM_022356.4:c.2055+13C>G MANE Select	NP_071751.3:n.2055+13C>G
NM_001146289.2:c.2068C>G	NP_001139761.1:p.Arg690Gly
NM_001243246.2:c.2068C>G	NP_001230175.1:p.Arg690Gly